Incidental Mutation 'R0143:Ttc38'
ID 22462
Institutional Source Beutler Lab
Gene Symbol Ttc38
Ensembl Gene ENSMUSG00000035944
Gene Name tetratricopeptide repeat domain 38
Synonyms
MMRRC Submission 038428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0143 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 85716545-85743023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85737920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 402 (V402A)
Ref Sequence ENSEMBL: ENSMUSP00000114504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146088]
AlphaFold A3KMP2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133158
Predicted Effect possibly damaging
Transcript: ENSMUST00000146088
AA Change: V402A

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944
AA Change: V402A

DomainStartEndE-ValueType
SCOP:d1ld8a_ 105 272 1e-7 SMART
low complexity region 342 354 N/A INTRINSIC
Meta Mutation Damage Score 0.1487 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,988,288 (GRCm39) I145N probably benign Het
Ankrd1 G A 19: 36,096,713 (GRCm39) A38V probably benign Het
Ankrd34b A G 13: 92,576,268 (GRCm39) E500G probably damaging Het
Arhgef12 T C 9: 42,916,890 (GRCm39) T419A probably damaging Het
B3galt2 A T 1: 143,523,072 (GRCm39) N403Y possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
C4b G A 17: 34,953,193 (GRCm39) probably benign Het
Cacna1e A T 1: 154,324,693 (GRCm39) probably null Het
Cdh3 T C 8: 107,237,857 (GRCm39) V17A probably benign Het
Cog7 A T 7: 121,550,387 (GRCm39) L379Q probably damaging Het
Cul9 T C 17: 46,837,336 (GRCm39) N1044S possibly damaging Het
Cyp4b1 C T 4: 115,493,071 (GRCm39) D258N probably damaging Het
Ddx39a T C 8: 84,447,179 (GRCm39) V113A probably benign Het
Dennd4b A T 3: 90,179,671 (GRCm39) H643L probably damaging Het
Dpy19l3 T C 7: 35,413,640 (GRCm39) T334A probably benign Het
Dsg3 T C 18: 20,669,882 (GRCm39) L632S probably damaging Het
Dtx4 G A 19: 12,463,846 (GRCm39) T312I probably damaging Het
Dusp18 C T 11: 3,847,243 (GRCm39) R78C probably benign Het
Fes A C 7: 80,033,643 (GRCm39) F203V probably benign Het
Fhad1 C A 4: 141,656,957 (GRCm39) probably benign Het
Gjb2 T C 14: 57,337,526 (GRCm39) silent Het
Gm5828 T C 1: 16,838,579 (GRCm39) noncoding transcript Het
Gsdma A C 11: 98,557,080 (GRCm39) E65A probably damaging Het
Hck T A 2: 152,976,140 (GRCm39) probably null Het
Henmt1 A T 3: 108,861,118 (GRCm39) H47L probably damaging Het
Hivep2 T C 10: 14,005,099 (GRCm39) F566L probably damaging Het
Hnrnpl T C 7: 28,513,617 (GRCm39) probably benign Het
Igsf3 T C 3: 101,342,917 (GRCm39) I518T probably damaging Het
Ireb2 T C 9: 54,793,193 (GRCm39) F223L probably benign Het
Isoc2a T C 7: 4,894,331 (GRCm39) probably null Het
Krt73 T A 15: 101,709,208 (GRCm39) R200W probably damaging Het
Lgals9 T A 11: 78,854,361 (GRCm39) I308F probably damaging Het
Lrp1 A G 10: 127,429,811 (GRCm39) F420L probably damaging Het
Mep1b T C 18: 21,228,164 (GRCm39) probably benign Het
Mex3a G T 3: 88,443,562 (GRCm39) A213S probably benign Het
Mmp13 T C 9: 7,276,558 (GRCm39) F218L probably damaging Het
Ncf1 G T 5: 134,255,991 (GRCm39) probably benign Het
Notch2 A G 3: 98,053,433 (GRCm39) D2032G probably damaging Het
Or10h28 T C 17: 33,488,471 (GRCm39) S258P probably damaging Het
Or5p1 A G 7: 107,916,202 (GRCm39) I34V probably benign Het
Or9i1b A C 19: 13,896,614 (GRCm39) I77L probably damaging Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Pex5 A T 6: 124,375,448 (GRCm39) W525R probably damaging Het
Plcb4 T A 2: 135,818,131 (GRCm39) I799N probably damaging Het
Poldip3 G A 15: 83,012,144 (GRCm39) L372F probably damaging Het
Polg2 C A 11: 106,668,352 (GRCm39) V174L probably benign Het
Prrt4 C G 6: 29,170,670 (GRCm39) G594A probably damaging Het
Prss1 A G 6: 41,440,522 (GRCm39) D199G probably damaging Het
Rbms2 T A 10: 127,973,823 (GRCm39) Q207L probably benign Het
Retreg2 A G 1: 75,123,074 (GRCm39) D334G possibly damaging Het
Slc6a15 T G 10: 103,253,929 (GRCm39) C622G probably benign Het
Spdya T A 17: 71,865,635 (GRCm39) D84E probably damaging Het
Stat3 A T 11: 100,785,982 (GRCm39) S432T possibly damaging Het
Tiam1 A T 16: 89,695,088 (GRCm39) V123E probably benign Het
Tnpo3 A G 6: 29,565,651 (GRCm39) probably benign Het
Tnrc6c A C 11: 117,643,811 (GRCm39) N1481H probably damaging Het
Top3b T C 16: 16,701,389 (GRCm39) S234P probably damaging Het
Tor1aip2 A T 1: 155,935,294 (GRCm39) T10S probably benign Het
Tpsab1 T A 17: 25,562,418 (GRCm39) H303L probably benign Het
Traf3 T A 12: 111,228,010 (GRCm39) V407D probably damaging Het
Trim33 T A 3: 103,259,417 (GRCm39) D1035E probably benign Het
Ube4b C T 4: 149,439,914 (GRCm39) R646H possibly damaging Het
Usp8 C A 2: 126,597,009 (GRCm39) probably benign Het
Zdbf2 A T 1: 63,347,233 (GRCm39) I1871F probably benign Het
Zfp345 T A 2: 150,314,475 (GRCm39) Q354L probably benign Het
Zfp462 C A 4: 55,023,402 (GRCm39) probably benign Het
Zfp81 G A 17: 33,554,095 (GRCm39) H240Y possibly damaging Het
Zfp830 A G 11: 82,655,994 (GRCm39) D266G possibly damaging Het
Other mutations in Ttc38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ttc38 APN 15 85,728,663 (GRCm39) missense possibly damaging 0.76
IGL01596:Ttc38 APN 15 85,720,274 (GRCm39) missense possibly damaging 0.89
IGL03221:Ttc38 APN 15 85,718,742 (GRCm39) missense probably benign 0.00
hairy UTSW 15 85,735,802 (GRCm39) splice site probably null
Stubble UTSW 15 85,728,716 (GRCm39) nonsense probably null
PIT4431001:Ttc38 UTSW 15 85,720,328 (GRCm39) missense probably benign
R0040:Ttc38 UTSW 15 85,725,690 (GRCm39) missense probably damaging 1.00
R0040:Ttc38 UTSW 15 85,725,690 (GRCm39) missense probably damaging 1.00
R0081:Ttc38 UTSW 15 85,740,673 (GRCm39) missense probably benign 0.04
R0764:Ttc38 UTSW 15 85,730,604 (GRCm39) splice site probably benign
R1745:Ttc38 UTSW 15 85,717,373 (GRCm39) missense probably damaging 1.00
R1837:Ttc38 UTSW 15 85,735,764 (GRCm39) missense probably damaging 1.00
R2069:Ttc38 UTSW 15 85,722,989 (GRCm39) missense probably damaging 1.00
R2086:Ttc38 UTSW 15 85,722,928 (GRCm39) missense probably benign
R2151:Ttc38 UTSW 15 85,735,802 (GRCm39) splice site probably null
R2228:Ttc38 UTSW 15 85,728,704 (GRCm39) missense probably benign 0.01
R4641:Ttc38 UTSW 15 85,728,659 (GRCm39) missense possibly damaging 0.87
R4705:Ttc38 UTSW 15 85,737,164 (GRCm39) missense probably benign 0.00
R4721:Ttc38 UTSW 15 85,722,947 (GRCm39) missense probably benign
R5037:Ttc38 UTSW 15 85,728,741 (GRCm39) missense probably benign 0.16
R6208:Ttc38 UTSW 15 85,725,698 (GRCm39) missense possibly damaging 0.56
R6454:Ttc38 UTSW 15 85,723,023 (GRCm39) missense probably damaging 1.00
R7326:Ttc38 UTSW 15 85,737,062 (GRCm39) missense probably benign 0.00
R7809:Ttc38 UTSW 15 85,722,939 (GRCm39) missense possibly damaging 0.65
R8195:Ttc38 UTSW 15 85,728,716 (GRCm39) nonsense probably null
R9042:Ttc38 UTSW 15 85,720,310 (GRCm39) missense probably benign 0.00
R9631:Ttc38 UTSW 15 85,728,659 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTACATTGGGCAGAGAACCATCAGG -3'
(R):5'- TAGGCAAGTTAGGCACTCGGATCG -3'

Sequencing Primer
(F):5'- CTGTGAAAGGCCCTAACTGTG -3'
(R):5'- GCACTCGGATCGGCAATG -3'
Posted On 2013-04-16